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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:palmoplantar keratoderma-esophageal carcinoma syndrome
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Accession:DOID:0111506 term browser browse the term
Definition:A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: Bennion-Patterson syndrome;   Howell Evans syndrome;   TOC;   keratosis palmaris et plantaris with esophageal cancer;   keratosis palmoplantaris with esophageal cancer;   keratosis palmoplantaris-esophageal carcinoma syndrome;   palmoplantar hyperkeratosis-esophageal carcinoma syndrome;   palmoplantar keratoderma with esophageal cancer;   tylosis with esophageal cancer;   tylosis-oesophageal carcinoma syndrome
 primary_id: MESH:C536164
 alt_id: OMIM:148500
 xref: GARD:3102;   ORDO:2198
For additional species annotation, visit the Alliance of Genome Resources.


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palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by OMIM:148500
ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
OMIM
ClinVar
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:28492532 NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      gastrointestinal system disease 4643
        Gastrointestinal Diseases 2558
          esophageal disease 359
            Esophageal Neoplasms 214
              esophageal cancer 158
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root